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Results for "AGO4"

Variant Events: 14

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
AGO4     iHART2687chr1:
36292396-36292396
CTexonicPaternalstopgainNM_017629c.C808Tp.R270X38.0-Ruzzo2019 G
AGO4     220-9883-203chr1:
36292424-36292424
CTexonicUnknownnonsynonymous SNVNM_017629c.C836Tp.A279V29.4-Stessman2017 T
AGO4     AU083003chr1:
36306888-36306888
GAexonicPaternalnonsynonymous SNVNM_017629c.G1847Ap.R616Q36.08.245E-6Stessman2017 T
AGO4     212-21056-1chr1:
36307322-36307322
CTexonicInheritedstopgainNM_017629c.C2146Tp.R716X42.0-Stessman2017 T
AGO4     M9A4Dchr1:
36306887-36306887
CTexonicUnknownnonsynonymous SNVNM_017629c.C1846Tp.R616W21.1-Stessman2017 T
AGO4     A30chr1:
36293277-36293282
TAAGTATintronicDe novo--Wu2018 G
AGO4     AU1941302chr1:
36292396-36292396
CTexonicPaternalstopgainNM_017629c.C808Tp.R270X38.0-Stessman2017 T
AGO4     M13352chr1:
36306806-36306806
GAexonicUnknownnonsynonymous SNVNM_017629c.G1765Ap.D589N34.08.269E-6Guo2018 T
Wang2016 T
AGO4     09C85478chr1:
36282630-36282630
GTexonicDe novononsynonymous SNVNM_017629c.G167Tp.R56L17.66-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
AGO4     AU172Achr1:
36306838-36306838
GTexonicDe novononsynonymous SNVNM_017629c.G1797Tp.K599N18.19-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
AGO4     03C16662chr1:
36306888-36306888
GAexonicPaternalnonsynonymous SNVNM_017629c.G1847Ap.R616Q36.08.245E-6Stessman2017 T
AGO4     AU2000304chr1:
36279987-36279987
GAintronicDe novo--Yuen2017 G
AGO4     JASD_Fam0025chr1:
36307019-36307019
CTexonicDe novononsynonymous SNVNM_017629c.C1978Tp.R660C29.62.472E-5Takata2018 E
AGO4     PN400119chr1:
36316465-36316465
GAexonicUnknownnonsynonymous SNVNM_017629c.G2288Ap.R763H25.5-Leblond2019 E
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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